Testicular Sex Cord Stromal Tumors
(TSCST)
Patients with TSCSTs typically present with indolent intra-testicular
mass. Apart from benign disorders such as varicocele, cysts etc.,
malignant germ cell tumors (GCT) and teratomas are the most relevant
differential diagnosis.1 Beyond infancy, malignant
GCTs are almost exclusively yolk sac tumors, characterized by serum
secretion of alpha-fetoprotein (AFP). After the onset of puberty, other
histological types such as seminoma, embryonal carcinoma and
choriocarcinoma may develop, being clinically categorized into seminoma
and non-seminoma.
Most of TSCSTs present as painless testicular swelling. The only
specific clinical manifestation that distinguishes TSCSTs from other
testicular tumors of different histological origin is its hormonal
secretion. However hormonal activity is mostly observed in Leydig cell
tumors, a very rare type of pediatric SCSTs in which testosterone
secretion is responsible of isosexual precocious pseudopuberty in
prepubertal boys or gynecomastia due to aromatization of testosterone to
estradiol in Leydig cells or adipose tissue.5Large-cell calcifying Sertoli cell tumors are another histological
subtype of TSCSTs encountered in prepubertal boys, teenagers and young
adults, which could be revealed by endocrine signs, in particular
gynecomastia due to aromatase activity in Sertoli tumor cells. The main
other pediatric TSCST is juvenile granulosa cell tumor (GrCT), mostly
diagnosed in the first year of life as painless testicular swelling. All
these pediatric TSCSTs have a benign course after curative total
orchiectomy. A genetic susceptibility syndrome is rare but has to be
explored in cases of large-cell calcifying Sertoli cell tumors which are
associated with Peutz-Jeghers syndrome (STK11 mutations) and
Carney complex (PRKAR1A mutations).
Diagnostic work-up